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mutated/deregulated gene whose inappropriate expression leads to cancer |
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normal cell gene, involved in the control of normal cell growth and proliferation (cell cycle control, transcription factor, DNA repair gene) |
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loss of gene critical for apppropriate cell growth (eg. cell cycle control, DNA repair) can cause predispositions to cancer in heterozygotes. |
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centromere not involved, crossovers whithin paracentric will produce acentric and dicentric products that contain duplications and deficiencies |
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Centromere is involved, will produce meiotic products that contain gene duplications and defiencies |
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8% of males with mental retardation, 1/1250 male births, other features include large testes, prominent jaw and head, large ears |
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region that can break off (narrowing or a gap) |
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Chromosomal Abnormalities |
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not that uncommon, 15% of pregnancies end in spontaneous abortions 1/2 have chromosomal abnormalities, 1/200 live births has a detectable chromosomal abnormality (mostly downs syndrom) |
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preformed on pregnant women to detet chromosomal abnormalities, involves getting sample of amniotic fluid |
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chromosome # is doubled, restoring ability to propagate sexually |
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contain mulitiples of the same chromosome set (Same Species) |
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contain multiples of differnt chromosome sets (differnt species) |
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often sterile due to pairing problems during meiosis |
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single base pair change or alteration in a small number of bases |
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affect outwardly visible properties |
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loss of viablity, change in characteristic ratio or number of recovered progeny |
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can lead to changes in growth requirements of an organism |
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generally recessive, lead to decrease in amount of gene product |
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some gene product is still being produced |
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can be dominant, a mutant phenotype can arise even in the presence of a wild type allele, may produce new funtion or altered function |
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an organism with wild-type growth requirements, will be able to grow on minimal medium |
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an organism that will proliferate only when media is supplemented with some specific substance not required by wild-type organisms |
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are episomes, mediate conjugation, carry their own origin of replication |
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are largely heterochromatic, can pai with X chromosome during meiotic prophase I, contain homology at the DNA level with a region of the X chromosome |
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associated with amplification of trinucleotide repeat in DNA |
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a somatic mutational event observed in chronic myelogenus leukemia |
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in humans number of barr bodies abserved is one less than than the number of X chromosomes |
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Indicated that DNA might be self complementary |
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the RNA molecule that is part of this enzyme is used as a template |
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integration event associated with lysogeny |
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tumor suppressor gene product involved in cell cycle control |
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associated with chromosome 13 deletions |
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facultative heterochromatin |
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used by Avery to show DNA is transforming principle |
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semi-conservative replication |
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demonstrated through use of CsC1 density-gradient centrifugation |
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